Detalhe da pesquisa
1.
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Ophthalmology
; 128(5): 706-718, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33039401
2.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
; 100(1): 75-90, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041643
3.
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Ophthalmology
; 127(10): 1384-1394, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32423767
4.
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Ophthalmology
; 122(2): 326-34, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25312043
5.
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Ophthalmology
; 126(2): 320-322, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30316539
6.
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.
Am J Ophthalmol
; 264: 205-215, 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522724
7.
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.
Invest Ophthalmol Vis Sci
; 65(2): 38, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411969
8.
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Ophthalmol Retina
; 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219857
9.
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Hum Mutat
; 34(3): 506-14, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23281133
10.
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Am J Hum Genet
; 87(1): 26-39, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20579627
11.
A phenotype-genotype correlation study of X-linked retinoschisis.
Ophthalmology
; 120(7): 1454-64, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453514
12.
Rapid upwards spread of non-native plants in mountains across continents.
Nat Ecol Evol
; 7(3): 405-413, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36702858
13.
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
Am J Hum Genet
; 85(5): 711-9, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19878917
14.
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.
Br J Ophthalmol
; 106(9): 1274-1281, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031043
15.
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.
Invest Ophthalmol Vis Sci
; 63(9): 14, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947379
16.
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
Am J Hum Genet
; 82(1): 19-31, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18179881
17.
RDH12 retinopathy: novel mutations and phenotypic description.
Mol Vis
; 17: 2706-16, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22065924
18.
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
Ophthalmology
; 118(8): 1661-70, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21529959
19.
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Mol Genet Genomic Med
; 9(12): e1663, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749171
20.
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
Eye (Lond)
; 35(5): 1482-1489, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681094